1000 Genomes pilot a hit with geneticists

Project finds millions of new variations in human DNA

The average person walks around with defective copies of 250 to 300 genes, a new close-up snapshot of human genetic diversity reveals, on top of about 75 DNA variants associated with disease.

An analysis of data gathered during the pilot phase of the 1000 Genomes Project appears in the Oct. 28 Nature, with a companion paper published in the Oct. 29 Science.

Despite its name, the project is an effort to catalog genetic variation in about 2,500 people, with special
emphasis on finding more of the relatively
rare variants present in less than 5 percent of the population. The information can be used to search for links between DNA variation and disease, and to study events in human prehistory that have left a genetic footprint.

“The veil has been lifted for us on a whole new level of genetic diversity,” says Evan Eichler, a geneticist at the University of Washington in Seattle who led a team investigating genes with variable numbers of copies.

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